Varaico: Literature-Extracted Genetic Variants

KCNMA1

469 papers

RefSeq Summary

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release an...

Pfam Domains

Ion_transaa 177–398UCSCIon transport protein

Slo-like_RCKaa 405–523UCSCCalcium-activated potassium channel slowpoke-like RCK domain

BK_channel_aaa 546–633UCSCCalcium-activated BK potassium channel alpha subunit

Slo-like_RCKaa 782–948UCSCCalcium-activated potassium channel slowpoke-like RCK domain

Slowpoke_Caa 998–1118UCSCCa2+-activated K+ channel Slowpoke, TrkA_C like domain

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily M alpha 1

HGNC Previous Symbol

SLO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001161352.2

p.A532V

c.1595C>T

Surrounding Variants

1 paper

NM_001161352.2

p.N536Y

c.1606A>T

14 papers

NM_001161352.2

p.N536H

c.1606A>C

1 paper

NM_001161352.2

p.N536S

c.1607A>G

1 paper

NM_001161352.2

p.N536K

c.1608C>G

1 paper

NM_001161352.2

p.N536K

c.1608C>A

1 paper

NM_001161352.2

p.P538L

c.1613C>T

1 paper

NM_001161352.2

p.E544Q

c.1630G>C

1 paper

NM_001161352.2

p.E544K

c.1630G>A

1 paper

NM_001161352.2

p.G545S

c.1633G>A

1 paper

NM_001161352.2

p.I549V

c.1645A>G

1 paper

NM_001161352.2

p.C550S

c.1648T>A

1 paper

NM_001161352.2

p.C550F

c.1649G>T